ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)

dbSNP: rs2094861411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264132 SCV001442233 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2020-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541614 SCV003294695 pathogenic Qualitative or quantitative defects of dysferlin 2022-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1621*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 984125). For these reasons, this variant has been classified as Pathogenic.

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